Genetic basis of (some) autism

Post Reply New Topic

Dalila Pinto et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature (2010) doi:10.1038/nature09146 http://www.nature.com/nature/journal/va ... 09146.html

(And editorial summary http://blogs.nature.com/news/thegreatbe ... ked_t.html)

There is some excellent reference material collected here. There are some mind-mapping style images of the genetic locii implicated in ASDs, a useful functional summary of all implicated locii and a written summary of the clinical effects associated with each locus. The relevant material is not in the paper, but in the 3.8 MB PDF download of supplementary data at http://www.nature.com/nature/journal/va ... 146-s1.pdf

The population attributable risk of all the identified locii is still only 3.3%.

Given the statistics from Silicon Valley, I think that a genetic basis is very likely

ruveyn

Let's just hope that imformation dossn't get in the wrong hands, and the lives of future autistics are protected, for future generations and centuries to come.

What I would expect from Canadians. So a proven ASD group, with intelectual disability often mentioned, is compared to "Europeans," a code word for English.

People with proven ASDs, a random sample of matched controls, and the result, a 1% higher rate of duplications and deletions in CNV.

I do not find this shocking, and would like some more controls, say people who have been convicted and sent to jail for stealing, Left handed people, and hockey players.

!% can be accounted for by a few subjects who are called ASD, carrots fit the criteria, but who have been through the genetic mixer, and came out scrambled. Their mother was also their grandfather.

Tossing out 5% of the subjects at the ends of the curve, the 1% would likely vanish.

As intelectual disability was often mentioned, where the controls IQ matched?

It sounds like we are comparing LFA with Psychology Majors, and getting hardly a 1% differance.

I would like to see the study expanded, I would like to know the CNV rates between Microsoft and Apple.

As ruveyn points out, ASDs have a wide range.

The interesting part is in the reference materials appended to the paper, for instance the detailed clinically relevant associations of each gene locus: